Hydrocephalus_Ventriculomegaly
Gene: WDR91
PMID 32732226: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents.
Mouse models support role in brain development.
Sources: LiteratureCreated: 11 Jun 2021, 7:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrocephalus; cerebellar hypoplasia; hygroma
Publications
Gene: wdr91 has been classified as Amber List (Moderate Evidence).
Gene: wdr91 has been classified as Amber List (Moderate Evidence).
gene: WDR91 was added gene: WDR91 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR91 were set to 34028500; 28860274; 32732226 Phenotypes for gene: WDR91 were set to Hydrocephalus; cerebellar hypoplasia; hygroma Review for gene: WDR91 was set to AMBER